episodic ataxia Gene Set

Dataset DISEASES Text-mining Gene-Disease Association Evidence Scores
Category disease or phenotype associations
Type disease
Description A neuromuscular disease characterized by sporadic bouts of ataxia with or without continuous muscle movement. (Human Disease Ontology, DOID_963)
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Genes

63 genes co-occuring with the disease episodic ataxia in abstracts of biomedical publications from the DISEASES Text-mining Gene-Disease Assocation Evidence Scores dataset.

Symbol Name Standardized Value
CACNA1A calcium channel, voltage-dependent, P/Q type, alpha 1A subunit 3.23735
KCNA1 potassium channel, voltage gated shaker related subfamily A, member 1 3.14375
CACNB4 calcium channel, voltage-dependent, beta 4 subunit 1.81419
KCNAB1 potassium channel, voltage gated subfamily A regulatory beta subunit 1 1.70907
PRRT2 proline-rich transmembrane protein 2 1.52512
SLC1A3 solute carrier family 1 (glial high affinity glutamate transporter), member 3 1.43508
PNKD paroxysmal nonkinesigenic dyskinesia 1.42762
KCNA2 potassium channel, voltage gated shaker related subfamily A, member 2 1.38123
KCNA6 potassium channel, voltage gated shaker related subfamily A, member 6 1.24211
SYT14 synaptotagmin XIV 1.23429
KCNA10 potassium channel, voltage gated shaker related subfamily A, member 10 1.14051
ATP1A2 ATPase, Na+/K+ transporting, alpha 2 polypeptide 1.13924
KCNQ3 potassium channel, voltage gated KQT-like subfamily Q, member 3 1.12656
KCNA4 potassium channel, voltage gated shaker related subfamily A, member 4 1.09545
UBR4 ubiquitin protein ligase E3 component n-recognin 4 1.01891
KCNQ2 potassium channel, voltage gated KQT-like subfamily Q, member 2 1.00963
ANO10 anoctamin 10 0.942443
PTPRR protein tyrosine phosphatase, receptor type, R 0.857724
SCN3A sodium channel, voltage gated, type III alpha subunit 0.838066
KCNA5 potassium channel, voltage gated shaker related subfamily A, member 5 0.814283
SYT2 synaptotagmin II 0.783936
SCN8A sodium channel, voltage gated, type VIII alpha subunit 0.779023
ATXN3 ataxin 3 0.767985
DARS2 aspartyl-tRNA synthetase 2, mitochondrial 0.763494
CAMP cathelicidin antimicrobial peptide 0.754934
DARS aspartyl-tRNA synthetase 0.754934
GBA2 glucosidase, beta (bile acid) 2 0.743954
NMT1 N-myristoyltransferase 1 0.743141
POU4F3 POU class 4 homeobox 3 0.734622
SCN1A sodium channel, voltage gated, type I alpha subunit 0.728952
KCNAB2 potassium channel, voltage gated subfamily A regulatory beta subunit 2 0.696306
CACNB2 calcium channel, voltage-dependent, beta 2 subunit 0.687491
CHRNB2 cholinergic receptor, nicotinic, beta 2 (neuronal) 0.672324
SCN4A sodium channel, voltage gated, type IV alpha subunit 0.629242
PDHA1 pyruvate dehydrogenase (lipoamide) alpha 1 0.615921
C10ORF2 chromosome 10 open reading frame 2 0.587444
TNNT1 troponin T type 1 (skeletal, slow) 0.536957
GABRG2 gamma-aminobutyric acid (GABA) A receptor, gamma 2 0.528835
RAB3A RAB3A, member RAS oncogene family 0.516494
SCN1B sodium channel, voltage gated, type I beta subunit 0.491215
CACNA1F calcium channel, voltage-dependent, L type, alpha 1F subunit 0.485505
COCH cochlin 0.484744
PRKCSH protein kinase C substrate 80K-H 0.480945
CACNA1G calcium channel, voltage-dependent, T type, alpha 1G subunit 0.4443
SLC2A1 solute carrier family 2 (facilitated glucose transporter), member 1 0.442418
SCAI suppressor of cancer cell invasion 0.440914
TRPC3 transient receptor potential cation channel, subfamily C, member 3 0.431894
AMPD1 adenosine monophosphate deaminase 1 0.416147
CSN3 casein kappa 0.40904
CACNA1S calcium channel, voltage-dependent, L type, alpha 1S subunit 0.379256
CDR2 cerebellar degeneration-related protein 2, 62kDa 0.374438
ELAVL3 ELAV like neuron-specific RNA binding protein 3 0.372587
PDYN prodynorphin 0.36187
KCNJ2 potassium channel, inwardly rectifying subfamily J, member 2 0.33944
CDR1 cerebellar degeneration-related protein 1, 34kDa 0.338341
KCNJ1 potassium channel, inwardly rectifying subfamily J, member 1 0.30342
MYO7A myosin VIIA 0.248554
NFIX nuclear factor I/X (CCAAT-binding transcription factor) 0.227642
CD177 CD177 molecule 0.223509
GCH1 GTP cyclohydrolase 1 0.220766
TCF3 transcription factor 3 0.198064
STX1A syntaxin 1A (brain) 0.159838
C7ORF49 chromosome 7 open reading frame 49 0.158778